Patients with Cornelia de Lange syndrome (CdLS) [OMIM #122470] have characteristic facial features, growth retardation, hirsutism, and upper limb reduction defects. More than 95% of patients with CdLS have limb involvement, but only 25% have severe limb anomalies. Characteristic facial features include synophrys, long eyelashes, depressed nasal bridge with an uptilted nasal tip and anteverted nares, thin upper lip with downturned corners of the mouth, and posteriorly rotated low-set ears. Most individuals have severe to profound mental retardation, but more mild cognitive delays have been reported. Mutations of the NIPBL [OMIM #608667] gene have been identified in patients with CdLS. Gillis, et al. detected NIPBL mutations in 56 of 120 (47%) patients with characteristic facial features of CdLS. Recently, intragenic deletions of one or more exons of NIPBL have been reported in approximately 2% of patients with a clinical diagnosis of CdLS.

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